Publications by authors named "Giorgio Paskulin"

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Clinical and Molecular Characterization of Adult Glioblastomas in Southern Brazil.
Patricia Trevisan, Carla Graziadio, Dayane Bohn Koshiyama Rodrigues, Rafael Fabiano Machado Rosa, Fabiano Pasqualotto Soares, Giorgio Adriano Paskulin

J Neuropathol Exp Neurol· April 2019

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Regulatory variants of FOXG1 in the context of its topological domain organisation.
Mana M Mehrjouy, Ana Carolina S Fonseca, Nadja Ehmke, Giorgio Paskulin, Antonio Novelli

Eur J Hum Genet· February 2018

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Two cases of polydactyly in wild brown howler monkeys (Alouatta guariba clamitans).
Moira Ansolch da Silva, Eliana R Steinberg, Giorgio A Paskulin, Fábio dos Santos Teixeira, Anamélia de Souza Jesus

J Med Primatol· February 2016

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Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study.
Alessandra Pawelec da Silva, Rafael Fabiano Machado Rosa, Patrícia Trevisan, Juliana Cavalheiro Dorneles, Camila Saporiti Mesquita, Giorgio Adriano Paskulin

Sao Paulo Med J· January 2016

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Cytogenetic profile of patients with Down syndrome in southern Brazil.
Patrícia Trevisan, Felipe Nora de Moraes, Vinicius Freitas de Mattos, Carla Graziadio, Rafael Fabiano Machado Rosa, Giorgio Adriano Paskulin

Sao Paulo Med J· April 2015

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Congenital heart disease in Southern Brazil: potential impact and prevention.
Juliane Nascimento da Silva, Patrícia Trevisan, Victória Bernardes Guimarães, Tatiana Diehl Zen, Ernani Bohrer da Rosa, Giorgio Adriano Paskulin

Int J Cardiol· January 2015

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45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study.
Rafael Fabiano Machado Rosa, Willy Francisco Bartel D'Ecclesiis, Raquel Papandreus Dibbi, Rosana Cardoso Manique Rosa, Patrícia Trevisan, Giorgio Adriano Paskulin

Sao Paulo Med J· December 2014

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Screening for 22q11 deletion syndrome among patients with congenital heart defects.
Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Patrícia Trevisan, Carla Graziadio, Marileila Varella-Garcia, Giorgio Adriano Paskulin

Sao Paulo Med J· October 2014

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Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.
Rafael Fabiano M Rosa, Rosana Cardoso M Rosa, Paulo Ricardo G Zen, Carla Graziadio, Giorgio Adriano Paskulin

Rev Paul Pediatr· July 2014

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Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?
Vinicius Freitas de Mattos, Carla Graziadio, Rafael Fabiano Machado Rosa, Rene Lenhardt, Ronnie Peterson Marcondes Alves, Giorgio Adriano Paskulin

Pediatr Neurol· June 2014

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Congenital heart disease and chromossomopathies detected by the karyotype.
Patrícia Trevisan, Rafael Fabiano M Rosa, Dayane Bohn Koshiyama, Tatiana Diehl Zen, Giorgio Adriano Paskulin

Rev Paul Pediatr· June 2014

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Evaluation of genotoxic effects of benzene and its derivatives in workers of gas stations.
Patrícia Trevisan, Juliane Nascimento da Silva, Alessandra Pawelec da Silva, Rafael Fabiano Machado Rosa, Giorgio Adriano Paskulin

Environ Monit Assess· April 2014

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Tri-allelic pattern at the TPOX locus: a familial study.
Juliane Bentes Picanço, Paulo Eduardo Raimann, Giorgio Adriano Paskulin, Luís Alvarez, António Amorim

Gene· February 2014

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Trisomy 13 (Patau syndrome) and congenital heart defects.
Janaina B Polli, Daniela de P Groff, Patrícia Petry, Vinícius F Mattos, Rosana C M Rosa, Giorgio A Paskulin

Am J Med Genet A· January 2014

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Chromosomal abnormalities in patients with congenital heart disease.
Patrícia Trevisan, Tatiana Diehl Zen, Rafael Fabiano Machado Rosa, Juliane Nascimento da Silva, Dayane Bohn Koshiyama, Giorgio Adriano Paskulin

Arq Bras Cardiol· December 2013

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Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations.
Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Marina Boff Lorenzen, Paulo Ricardo Gazzola Zen, Ceres Andréia Vieira de Oliveira, Giorgio Adriano Paskulin

Sao Paulo Med J· November 2013

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Trisomy 18 and neural tube defects.
Rafael Fabiano Machado Rosa, Patrícia Trevisan, Rosana Cardoso Manique Rosa, Marina Boff Lorenzen, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

Pediatr Neurol· September 2013

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Craniofacial abnormalities among patients with Edwards Syndrome.
Rafael Fabiano M Rosa, Rosana Cardoso M Rosa, Marina Boff Lorenzen, Paulo Ricardo G Zen, Carla Graziadio, Giorgio Adriano Paskulin

Rev Paul Pediatr· September 2013

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Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.
Patrícia Petry, Janaina B Polli, Vinícius F Mattos, Rosana C M Rosa, Paulo R G Zen, Giorgio A Paskulin

Am J Med Genet A· June 2013

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Congenital heart defects and extracardiac malformations.
Rosana Cardoso M Rosa, Rafael Fabiano M Rosa, Paulo Ricardo G Zen, Giorgio Adriano Paskulin

Rev Paul Pediatr· June 2013

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Limb abnormalities on trisomy 18: evidence for early diagnosis.
Rafael F M Rosa, Rosana Cardoso Manique Rosa, Marina Boff Lorenzen, Paulo R G Zen, Ceres A V de Oliveira, Giorgio A Paskulin

J Pediatr (Rio J)· May 2013

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Cytogenetic response to imatinib treatment in Southern Brazilian patients with chronic myelogenous leukemia and variant Philadelphia chromosome.
Dayane B Koshiyama, Marcelo E Z Capra, Giorgio A Paskulin, Rafael F M Rosa, Ceres A V Oliveira

Ann Hematol· January 2013

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Malformations detected by abdominal ultrasound in children with congenital heart disease.
Rosana Cardoso Manique Rosa, Rafael Fabiano Machado Rosa, José Antônio Monteiro Flores, Eliete Golendziner, Ceres Andréia Vieira de Oliveira, Giorgio Adriano Paskulin

Arq Bras Cardiol· December 2012

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Trisomy 18: frequency, types, and prognosis of congenital heart defects in a Brazilian cohort.
Rafael F M Rosa, Rosana C M Rosa, Marina B Lorenzen, Ceres A V de Oliveira, Carla Graziadio, Giorgio A Paskulin

Am J Med Genet A· September 2012

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A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity.
Osvaldo Artigalás, Giorgio Paskulin, Mariluce Riegel, Maira Burin, Maria Luiza Saraiva-Pereira

Genet Mol Biol· April 2012

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